Incidental Mutation 'IGL02401:Olfr1257'
ID 291875
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1257
Ensembl Gene ENSMUSG00000049057
Gene Name olfactory receptor 1257
Synonyms MOR232-1, GA_x6K02T2Q125-51319458-51320387
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL02401
Quality Score
Status
Chromosome 2
Chromosomal Location 89878437-89883026 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89881453 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 209 (F209S)
Ref Sequence ENSEMBL: ENSMUSP00000107144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060795] [ENSMUST00000111519]
AlphaFold Q8VGP0
Predicted Effect probably damaging
Transcript: ENSMUST00000060795
AA Change: F209S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000056439
Gene: ENSMUSG00000049057
AA Change: F209S

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 2.6e-31 PFAM
Pfam:7tm_4 137 278 8e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111519
AA Change: F209S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107144
Gene: ENSMUSG00000049057
AA Change: F209S

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.5e-49 PFAM
Pfam:7tm_1 39 285 3.9e-18 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef18 C T 8: 3,437,078 R266C probably damaging Het
Asb11 A T X: 164,458,757 probably benign Het
Cnot1 G A 8: 95,756,133 T764M possibly damaging Het
Galns A G 8: 122,605,199 M59T probably damaging Het
Gm5884 A G 6: 128,645,414 noncoding transcript Het
Gm9312 A C 12: 24,252,105 noncoding transcript Het
Lama3 T C 18: 12,557,727 F1268S probably benign Het
Lrp5 A G 19: 3,593,585 C1347R probably damaging Het
Lrrfip1 T C 1: 91,114,928 S352P probably benign Het
Mcfd2 T C 17: 87,257,164 T97A probably damaging Het
Mroh2b A G 15: 4,900,501 N23S possibly damaging Het
Nr1i3 A T 1: 171,216,373 probably benign Het
Olfr912 C T 9: 38,581,355 P26L probably damaging Het
Orm2 A C 4: 63,363,331 I100L probably benign Het
Pbsn A G X: 77,842,523 M126T probably benign Het
Rpgr G T X: 10,158,717 T1026K possibly damaging Het
Sdhaf3 C T 6: 7,038,855 T59M probably benign Het
Shq1 T C 6: 100,648,247 Y217C probably damaging Het
Slc17a8 A T 10: 89,576,660 probably null Het
Slc6a19 A G 13: 73,700,590 I15T probably damaging Het
Smarcd3 A T 5: 24,593,719 V335E probably damaging Het
Sugp2 A G 8: 70,243,171 T265A possibly damaging Het
Tfrc T G 16: 32,617,181 S225R probably damaging Het
Vsig10l T A 7: 43,464,044 L140Q probably damaging Het
Zbtb46 T A 2: 181,423,452 T302S probably benign Het
Znhit1 T C 5: 136,982,659 Y105C probably damaging Het
Other mutations in Olfr1257
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01600:Olfr1257 APN 2 89881662 missense probably benign 0.02
IGL01641:Olfr1257 APN 2 89881608 missense probably benign 0.01
IGL01668:Olfr1257 APN 2 89881099 missense probably benign 0.01
IGL01901:Olfr1257 APN 2 89881482 missense probably damaging 1.00
IGL02472:Olfr1257 APN 2 89881411 missense probably benign 0.44
IGL02631:Olfr1257 APN 2 89881255 missense possibly damaging 0.95
PIT4354001:Olfr1257 UTSW 2 89881508 missense probably benign 0.04
R0552:Olfr1257 UTSW 2 89880891 nonsense probably null
R0616:Olfr1257 UTSW 2 89881591 missense probably benign 0.07
R0943:Olfr1257 UTSW 2 89880961 missense probably benign 0.11
R1146:Olfr1257 UTSW 2 89881206 missense probably damaging 1.00
R1146:Olfr1257 UTSW 2 89881206 missense probably damaging 1.00
R1314:Olfr1257 UTSW 2 89880877 missense probably benign 0.35
R1641:Olfr1257 UTSW 2 89881401 missense probably benign 0.07
R1763:Olfr1257 UTSW 2 89881129 missense probably damaging 0.99
R1836:Olfr1257 UTSW 2 89881285 missense probably damaging 1.00
R2125:Olfr1257 UTSW 2 89881638 missense probably benign
R4322:Olfr1257 UTSW 2 89881734 missense probably benign 0.07
R4897:Olfr1257 UTSW 2 89881132 missense probably benign 0.39
R5446:Olfr1257 UTSW 2 89881549 missense probably damaging 1.00
R5456:Olfr1257 UTSW 2 89881258 missense probably damaging 0.97
R6415:Olfr1257 UTSW 2 89880862 missense probably damaging 1.00
R6905:Olfr1257 UTSW 2 89881708 missense probably benign 0.05
R7170:Olfr1257 UTSW 2 89880841 missense probably benign 0.12
R7170:Olfr1257 UTSW 2 89881053 missense possibly damaging 0.70
R7411:Olfr1257 UTSW 2 89881261 missense probably damaging 0.98
R8171:Olfr1257 UTSW 2 89881065 missense probably benign 0.05
R8490:Olfr1257 UTSW 2 89881167 missense probably damaging 1.00
R9176:Olfr1257 UTSW 2 89881171 missense probably benign 0.05
R9204:Olfr1257 UTSW 2 89881138 missense probably damaging 1.00
R9751:Olfr1257 UTSW 2 89881612 missense probably benign 0.02
Posted On 2015-04-16